RNA sequencing resolves novel DYNC2H1 variants causing short ‐rib thoracic dysplasia type 3: Case report

ConclusionThis case demonstrates the diagnostic utility of RNA-Seq for variant interpretation following inconclusive clinical testing, which can ultimately lead to diagnosis for patients with rare disease.

Source: Molecular Genetics & Genomic Medicine - July 25, 2023 Category: Genetics & Stem Cells Authors: Aren E. Marshall, Stella K. MacDonald, Yijing Liang, Madeline Couse, Care4Rare Canada Consortium, Kym M. Boycott, Julie Richer, Kristin D. Kernohan Tags: CLINICAL REPORT Source Type: research